Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Delvallée C et al.
Clinical Genetics, 2021
Photoreceptor Cilia and Retinal Ciliopathies.
Bujakowska KM et al.
Cold Spring Harbor Perspectives in Biology, 2017
Understanding mutational effects in digenic diseases.
Gazzo A et al.
Nucleic Acids Research, 2017
28911095 (PubMed )
Supplement: gkx557_supp.zip › nar-00132-met-n-2017-File009.pdf
Genetic modifiers and oligogenic inheritance.
Kousi M et al.
Cold Spring Harbor Perspectives in Medicine, 2015
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
21463199 (PubMed )
Supplement: supplement_1.pdf
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
Janssen S et al.
Human Genetics, 2011
Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport.
Blacque OE et al.
Cellular and Molecular Life Sciences : Cmls, 2006
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome.
Nakane T et al.
American Journal of Medical Genetics. Part A, 2005
Triallelic inheritance: a bridge between Mendelian and multifactorial traits.
Eichers ER et al.
Annals of Medicine, 2004
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
Beales PL et al.
American Journal of Human Genetics, 2003
Genetic modifiers in human development and malformation syndromes, including chaperone proteins.
Slavotinek A et al.
Human Molecular Genetics, 2003
Beyond Mendel: an evolving view of human genetic disease transmission.
Badano JL et al.
Nature Reviews. Genetics, 2002
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